NM_000257.4(MYH7):c.745C>G (p.Arg249Gly) AND Hypertrophic cardiomyopathy 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 1, 2017
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000577986.8

Allele description [Variation Report for NM_000257.4(MYH7):c.745C>G (p.Arg249Gly)]

NM_000257.4(MYH7):c.745C>G (p.Arg249Gly)

Gene:

MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_000257.4(MYH7):c.745C>G (p.Arg249Gly)

HGVS:

NC_000014.9:g.23431469G>C
NG_007884.1:g.9193C>G
NM_000257.4:c.745C>GMANE SELECT
NP_000248.2:p.Arg249Gly
LRG_384t1:c.745C>G
LRG_384:g.9193C>G
NC_000014.8:g.23900678G>C
NM_000257.3:c.745C>G

Protein change:

R249G

Links:

dbSNP: rs730880852

NCBI 1000 Genomes Browser:

rs730880852

Molecular consequence:

NM_000257.4:c.745C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Hypertrophic cardiomyopathy 1
Synonyms:: Familial hypertrophic cardiomyopathy 1; MYH7-Related Familial Hypertrophic Cardiomyopathy
Identifiers:: MONDO: MONDO:0008647; MedGen: C3495498; OMIM: 192600

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Mus musculus chromosome 15, clone RP23-82J20, complete sequence
Mus musculus chromosome 15, clone RP23-82J20, complete sequence
gi|67972625|gnl|WIBR|L14787|gb|AC14 14|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000679798	Phosphorus, Inc.	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 1, 2017)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24691700, 27066506, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000679798

Phosphorus, Inc.

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 1, 2017)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction.

Tian T, Wang J, Wang H, Sun K, Wang Y, Jia L, Zou Y, Hui R, Zhou X, Song L.

Heart Vessels. 2015 Mar;30(2):258-64. doi: 10.1007/s00380-014-0503-x. Epub 2014 Apr 2.

PubMed [citation]

PMID:: 24691700

The pathogenicity of genetic variants previously associated with left ventricular non-compaction.

Abbasi Y, Jabbari J, Jabbari R, Yang RQ, Risgaard B, Køber L, Haunsø S, Tfelt-Hansen J.

Mol Genet Genomic Med. 2016 Mar;4(2):135-42. doi: 10.1002/mgg3.182.

PubMed [citation]

PMID:: 27066506
PMCID:: PMC4799875

See all PubMed Citations (3)

Details of each submission

From Phosphorus, Inc., SCV000679798.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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